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2008 3
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ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat O, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi D, Bindoff LA. Hikmat O, et al. Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23. Eur J Neurol. 2016. PMID: 27106809
Genetic investigation revealed ADCK3 mutations in all patients including a novel change in exon 15: c.T1732G, p.F578V. There was no apparent genotype-phenotype correlation. CONCLUSION: ADCK3 mutations can cause a combination of progressive ataxia and acute epileptic …
Genetic investigation revealed ADCK3 mutations in all patients including a novel change in exon 15: c.T1732G, p.F578V. There was no a …
Human CoQ10 deficiencies.
Quinzii CM, López LC, Naini A, DiMauro S, Hirano M. Quinzii CM, et al. Biofactors. 2008;32(1-4):113-8. doi: 10.1002/biof.5520320113. Biofactors. 2008. PMID: 19096106 Free PMC article.
Deficiencies of CoQ10 (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad of recurrent myoglobinuria, brain involvement, and ragged-red fibers; 2) infantile multisystemic disease typically with prominent neph …
Deficiencies of CoQ10 (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad o …
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY. Cheng HL, et al. Transl Neurodegener. 2021 Oct 18;10(1):40. doi: 10.1186/s40035-021-00264-z. Transl Neurodegener. 2021. PMID: 34663476 Free PMC article.
Ten different genes were involved, of which four most common genes were SACS, SYNE1, ADCK3 and SETX, which accounted for 76.0% (19/25) of the positive cases. The de novo microdeletion in SACS was reported for the first time in China and the uniparental disomy of ADCK3 …
Ten different genes were involved, of which four most common genes were SACS, SYNE1, ADCK3 and SETX, which accounted for 76.0% (19/25 …
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H. Gerards M, et al. Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23. Mitochondrion. 2010. PMID: 20580948
CABC1/ADCK3 is the homologue of the yeast Coq8 gene, which is involved in the ubiquinone biosynthesis pathway. ...Eight additional patients with AR cerebellar ataxia and atrophy were screened for mutations in the CABC1/ADCK3 gene. One patient was compound heterozygo …
CABC1/ADCK3 is the homologue of the yeast Coq8 gene, which is involved in the ubiquinone biosynthesis pathway. ...Eight additional pa …
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Barca E, Musumeci O, Montagnese F, Marino S, Granata F, Nunnari D, Peverelli L, DiMauro S, Quinzii CM, Toscano A. Barca E, et al. Clin Genet. 2016 Aug;90(2):156-60. doi: 10.1111/cge.12742. Epub 2016 Feb 16. Clin Genet. 2016. PMID: 26818466 Free PMC article.
Brain magnetic resonance imaging showed a marked cerebellar atrophy. ...Molecular studies identified a novel homozygous deletion (c.504del_CT) in ADCK3, causing a premature stop codon. Western blot analysis revealed marked reduction of ADCK3 protein levels. . …
Brain magnetic resonance imaging showed a marked cerebellar atrophy. ...Molecular studies identified a novel homozygous deletion (c.5 …
Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.
Ashrafi MR, Haghighi R, Badv RS, Ghabeli H, Tavasoli AR, Pourbakhtyaran E, Rezaei Z, Mahdieh N, Mohammadi P, Heidari M. Ashrafi MR, et al. J Mol Neurosci. 2022 May;72(5):1125-1132. doi: 10.1007/s12031-022-01993-0. Epub 2022 Mar 11. J Mol Neurosci. 2022. PMID: 35275351 Free PMC article.
Primary Coenzyme Q10 deficiency-4 (COQ10D4), also known as autosomal recessive spinocerebellar ataxia-9 (SCAR9), is an autosomal recessive disorder caused by mutations in the ADCK3 gene. This disorder is characterized by several clinical manifestations such as severe infan …
Primary Coenzyme Q10 deficiency-4 (COQ10D4), also known as autosomal recessive spinocerebellar ataxia-9 (SCAR9), is an autosomal recessive d …
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. Lagier-Tourenne C, et al. Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024. Am J Hum Genet. 2008. PMID: 18319074 Free PMC article.
The causative mutation is a homozygous splice-site mutation in the aarF-domain-containing kinase 3 gene (ADCK3). Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ(10) deficiency in muscle. ...Finall …
The causative mutation is a homozygous splice-site mutation in the aarF-domain-containing kinase 3 gene (ADCK3). Five additional muta …
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.
Blumkin L, Leshinsky-Silver E, Zerem A, Yosovich K, Lerman-Sagie T, Lev D. Blumkin L, et al. JIMD Rep. 2014;12:103-7. doi: 10.1007/8904_2013_251. Epub 2013 Sep 19. JIMD Rep. 2014. PMID: 24048965 Free PMC article.
Mitochondrial respiratory chain enzyme analysis in muscle showed a decrease in complex I + III. Progressive cerebellar atrophy was demonstrated on serial brain MR imaging. Coenzyme Q10 (CoQ10) supplementation, started at the age of 5 years, led to a significant improvement …
Mitochondrial respiratory chain enzyme analysis in muscle showed a decrease in complex I + III. Progressive cerebellar atrophy was demonstra …
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM. Ziosi M, et al. EMBO Mol Med. 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356. EMBO Mol Med. 2017. PMID: 27856618 Free PMC article.
Biochemical and molecular abnormalities are rescued by CoQ supplementation in vitro and recapitulated by pharmacological inhibition of CoQ biosynthesis in skin fibroblasts and ADCK3 depletion in HeLa cells. Kidneys of Pdss2(kd/kd) mice, which only have ~15% residual CoQ co …
Biochemical and molecular abnormalities are rescued by CoQ supplementation in vitro and recapitulated by pharmacological inhibition of CoQ b …
14 results